Kapoor Mahima, Rossor Alexander M, Jaunmuktane Zane, Lunn Michael P T, Reilly Mary M
MRC Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Institute of Neurology, London, UK.
Division of Neuropathology, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.
Pract Neurol. 2019 Jun;19(3):250-258. doi: 10.1136/practneurol-2018-002098. Epub 2018 Dec 30.
Systemic amyloidosis can be hereditary or acquired. The autosomal dominant hereditary transthyretin amyloidosis and the acquired light-chain amyloidosis, the result of a plasma cell dyscrasia, are multisystem disorders with cardiovascular, autonomic and peripheral nerve involvement. There are numerous investigational modalities available to diagnose systemic amyloidosis and to assess the extent of organ involvement, but it is frequently misdiagnosed due to its heterogeneous clinical presentations and misleading investigation findings. An accurate and timely diagnosis of amyloid neuropathy can greatly impact on the outcomes for patients, especially as there will soon be new gene-silencing treatments for hereditary transthyretin amyloidosis.
系统性淀粉样变性可分为遗传性或获得性。常染色体显性遗传性转甲状腺素蛋白淀粉样变性以及由浆细胞异常引起的获得性轻链淀粉样变性,都是累及心血管、自主神经和周围神经的多系统疾病。有多种检查方法可用于诊断系统性淀粉样变性并评估器官受累程度,但由于其临床表现多样且检查结果具有误导性,该病常被误诊。准确及时地诊断淀粉样变神经病对患者的预后有很大影响,特别是因为遗传性转甲状腺素蛋白淀粉样变性很快将有新的基因沉默治疗方法。